Incidental Mutation 'R7070:Mast2'
ID |
548821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast2
|
Ensembl Gene |
ENSMUSG00000003810 |
Gene Name |
microtubule associated serine/threonine kinase 2 |
Synonyms |
MAST205, Mtssk |
MMRRC Submission |
045166-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7070 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
116163957-116321420 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116168052 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 960
(I960N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003908]
[ENSMUST00000106484]
[ENSMUST00000106485]
[ENSMUST00000106486]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003908
AA Change: I899N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000003908 Gene: ENSMUSG00000003810 AA Change: I899N
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
low complexity region
|
56 |
63 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
141 |
416 |
1.8e-148 |
PFAM |
S_TKc
|
452 |
725 |
2.96e-99 |
SMART |
S_TK_X
|
726 |
786 |
1.08e-1 |
SMART |
low complexity region
|
849 |
861 |
N/A |
INTRINSIC |
low complexity region
|
1009 |
1028 |
N/A |
INTRINSIC |
PDZ
|
1049 |
1129 |
2.23e-12 |
SMART |
low complexity region
|
1142 |
1157 |
N/A |
INTRINSIC |
low complexity region
|
1177 |
1210 |
N/A |
INTRINSIC |
low complexity region
|
1224 |
1249 |
N/A |
INTRINSIC |
low complexity region
|
1279 |
1302 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1360 |
N/A |
INTRINSIC |
low complexity region
|
1437 |
1452 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106484
AA Change: I906N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102093 Gene: ENSMUSG00000003810 AA Change: I906N
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
low complexity region
|
56 |
63 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
141 |
423 |
1.3e-151 |
PFAM |
S_TKc
|
459 |
732 |
2.96e-99 |
SMART |
S_TK_X
|
733 |
793 |
1.08e-1 |
SMART |
low complexity region
|
856 |
868 |
N/A |
INTRINSIC |
low complexity region
|
1016 |
1035 |
N/A |
INTRINSIC |
PDZ
|
1056 |
1136 |
2.23e-12 |
SMART |
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1184 |
1217 |
N/A |
INTRINSIC |
low complexity region
|
1233 |
1255 |
N/A |
INTRINSIC |
low complexity region
|
1285 |
1308 |
N/A |
INTRINSIC |
low complexity region
|
1351 |
1366 |
N/A |
INTRINSIC |
low complexity region
|
1443 |
1458 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106485
AA Change: I960N
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102094 Gene: ENSMUSG00000003810 AA Change: I960N
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
41 |
N/A |
INTRINSIC |
low complexity region
|
99 |
110 |
N/A |
INTRINSIC |
low complexity region
|
117 |
124 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
202 |
477 |
1.1e-148 |
PFAM |
S_TKc
|
513 |
786 |
2.96e-99 |
SMART |
S_TK_X
|
787 |
847 |
1.08e-1 |
SMART |
low complexity region
|
910 |
922 |
N/A |
INTRINSIC |
low complexity region
|
1070 |
1089 |
N/A |
INTRINSIC |
PDZ
|
1110 |
1190 |
2.23e-12 |
SMART |
low complexity region
|
1203 |
1218 |
N/A |
INTRINSIC |
low complexity region
|
1238 |
1271 |
N/A |
INTRINSIC |
low complexity region
|
1285 |
1310 |
N/A |
INTRINSIC |
low complexity region
|
1340 |
1363 |
N/A |
INTRINSIC |
low complexity region
|
1406 |
1421 |
N/A |
INTRINSIC |
low complexity region
|
1498 |
1513 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106486
AA Change: I967N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000102095 Gene: ENSMUSG00000003810 AA Change: I967N
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
41 |
N/A |
INTRINSIC |
low complexity region
|
99 |
110 |
N/A |
INTRINSIC |
low complexity region
|
117 |
124 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
202 |
483 |
2.9e-143 |
PFAM |
S_TKc
|
520 |
793 |
2.96e-99 |
SMART |
S_TK_X
|
794 |
854 |
1.08e-1 |
SMART |
low complexity region
|
917 |
929 |
N/A |
INTRINSIC |
low complexity region
|
1077 |
1096 |
N/A |
INTRINSIC |
PDZ
|
1117 |
1197 |
2.23e-12 |
SMART |
low complexity region
|
1210 |
1225 |
N/A |
INTRINSIC |
low complexity region
|
1245 |
1278 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1316 |
N/A |
INTRINSIC |
low complexity region
|
1346 |
1369 |
N/A |
INTRINSIC |
low complexity region
|
1412 |
1427 |
N/A |
INTRINSIC |
low complexity region
|
1504 |
1519 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544G11Rik |
T |
C |
6: 65,930,232 (GRCm39) |
Y156H |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,240,701 (GRCm39) |
F855I |
probably benign |
Het |
Abca2 |
T |
G |
2: 25,333,007 (GRCm39) |
F1569V |
probably benign |
Het |
Adcy8 |
T |
A |
15: 64,792,404 (GRCm39) |
N184I |
probably damaging |
Het |
Akap3 |
T |
C |
6: 126,850,987 (GRCm39) |
V835A |
probably damaging |
Het |
Atg5 |
T |
A |
10: 44,162,150 (GRCm39) |
L22H |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,152,879 (GRCm39) |
F196L |
possibly damaging |
Het |
C1qtnf9 |
A |
G |
14: 61,017,232 (GRCm39) |
H254R |
probably damaging |
Het |
Capza3 |
C |
T |
6: 139,987,646 (GRCm39) |
R82C |
probably damaging |
Het |
Ccdc126 |
A |
G |
6: 49,316,796 (GRCm39) |
D92G |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,583,915 (GRCm39) |
M585K |
probably benign |
Het |
Chrnb3 |
A |
T |
8: 27,883,989 (GRCm39) |
Y242F |
probably damaging |
Het |
Cngb3 |
T |
C |
4: 19,425,593 (GRCm39) |
V467A |
possibly damaging |
Het |
Cnot8 |
A |
G |
11: 58,008,278 (GRCm39) |
D248G |
probably benign |
Het |
Cntn1 |
C |
T |
15: 92,151,917 (GRCm39) |
T452M |
probably damaging |
Het |
Cygb |
C |
A |
11: 116,544,851 (GRCm39) |
|
probably benign |
Het |
D930020B18Rik |
G |
A |
10: 121,477,879 (GRCm39) |
V35M |
probably damaging |
Het |
Dcaf17 |
C |
T |
2: 70,918,857 (GRCm39) |
T477M |
probably benign |
Het |
Dpp3 |
A |
T |
19: 4,968,356 (GRCm39) |
F239I |
probably benign |
Het |
Dst |
T |
A |
1: 34,314,383 (GRCm39) |
V6442E |
probably damaging |
Het |
Enpp2 |
T |
A |
15: 54,762,685 (GRCm39) |
I188F |
probably damaging |
Het |
Galnt5 |
A |
G |
2: 57,888,621 (GRCm39) |
M74V |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,397,288 (GRCm39) |
D933G |
possibly damaging |
Het |
Gtf2i |
T |
A |
5: 134,311,657 (GRCm39) |
E223D |
probably damaging |
Het |
H2-M5 |
C |
A |
17: 37,300,051 (GRCm39) |
G41V |
possibly damaging |
Het |
Hars2 |
C |
T |
18: 36,924,165 (GRCm39) |
R501* |
probably null |
Het |
Heatr4 |
A |
G |
12: 84,016,632 (GRCm39) |
V545A |
probably benign |
Het |
Hsd3b3 |
T |
A |
3: 98,649,787 (GRCm39) |
T179S |
possibly damaging |
Het |
Ighv5-6 |
A |
G |
12: 113,589,429 (GRCm39) |
V17A |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,137,255 (GRCm39) |
D772G |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,690,393 (GRCm39) |
|
probably null |
Het |
Kcnj15 |
C |
G |
16: 95,096,690 (GRCm39) |
T104S |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,501,744 (GRCm39) |
E927G |
probably damaging |
Het |
Larp1b |
G |
T |
3: 40,931,086 (GRCm39) |
G275C |
probably damaging |
Het |
Lyst |
C |
A |
13: 13,932,029 (GRCm39) |
H3552Q |
probably benign |
Het |
Mcee |
G |
A |
7: 64,050,078 (GRCm39) |
V70I |
possibly damaging |
Het |
Muc16 |
G |
A |
9: 18,557,219 (GRCm39) |
Q3025* |
probably null |
Het |
Nrg1 |
T |
A |
8: 32,339,465 (GRCm39) |
T45S |
probably damaging |
Het |
Nutm1 |
T |
A |
2: 112,079,806 (GRCm39) |
H703L |
probably benign |
Het |
Or5m10 |
G |
A |
2: 85,718,034 (GRCm39) |
V297I |
probably benign |
Het |
Or7a38 |
A |
T |
10: 78,753,102 (GRCm39) |
I143L |
probably benign |
Het |
Pbx1 |
A |
C |
1: 168,023,337 (GRCm39) |
C273G |
probably damaging |
Het |
Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
Pigm |
T |
A |
1: 172,205,233 (GRCm39) |
I323N |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,323,045 (GRCm39) |
R700H |
probably benign |
Het |
Ptx4 |
G |
A |
17: 25,341,971 (GRCm39) |
A149T |
probably benign |
Het |
Rab6a |
A |
G |
7: 100,279,064 (GRCm39) |
D68G |
probably damaging |
Het |
Rcan3 |
C |
T |
4: 135,143,898 (GRCm39) |
E185K |
probably damaging |
Het |
Rnf14 |
A |
G |
18: 38,434,781 (GRCm39) |
N76S |
possibly damaging |
Het |
Rpf1 |
A |
T |
3: 146,217,939 (GRCm39) |
F192I |
probably damaging |
Het |
Rps6ka1 |
T |
C |
4: 133,588,759 (GRCm39) |
T285A |
probably benign |
Het |
Rrp8 |
T |
C |
7: 105,384,083 (GRCm39) |
K94E |
possibly damaging |
Het |
Rsbn1 |
A |
G |
3: 103,836,299 (GRCm39) |
K122E |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,980,187 (GRCm39) |
T53A |
possibly damaging |
Het |
Slc23a1 |
T |
G |
18: 35,754,834 (GRCm39) |
D519A |
probably damaging |
Het |
Slfn14 |
T |
G |
11: 83,167,531 (GRCm39) |
R661S |
probably benign |
Het |
Snta1 |
T |
C |
2: 154,222,979 (GRCm39) |
E248G |
probably benign |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG |
16: 91,453,729 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
G |
T |
5: 77,195,124 (GRCm39) |
|
probably null |
Het |
Stk11ip |
C |
T |
1: 75,504,259 (GRCm39) |
H297Y |
probably benign |
Het |
Synpr |
T |
A |
14: 13,493,628 (GRCm38) |
F76I |
probably damaging |
Het |
Tns2 |
A |
G |
15: 102,012,968 (GRCm39) |
R27G |
possibly damaging |
Het |
Trav5-4 |
C |
T |
14: 53,941,912 (GRCm39) |
S95F |
possibly damaging |
Het |
Ttyh1 |
T |
C |
7: 4,136,363 (GRCm39) |
Y330H |
probably damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,129,224 (GRCm39) |
|
probably null |
Het |
Vmn2r69 |
T |
C |
7: 85,060,688 (GRCm39) |
I299V |
probably damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,924,313 (GRCm39) |
D37E |
probably damaging |
Het |
|
Other mutations in Mast2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00515:Mast2
|
APN |
4 |
116,168,526 (GRCm39) |
missense |
probably benign |
0.39 |
IGL00916:Mast2
|
APN |
4 |
116,184,830 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02112:Mast2
|
APN |
4 |
116,176,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Mast2
|
UTSW |
4 |
116,170,043 (GRCm39) |
splice site |
probably benign |
|
R0645:Mast2
|
UTSW |
4 |
116,165,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R0883:Mast2
|
UTSW |
4 |
116,168,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1447:Mast2
|
UTSW |
4 |
116,169,210 (GRCm39) |
missense |
probably benign |
0.02 |
R1449:Mast2
|
UTSW |
4 |
116,166,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Mast2
|
UTSW |
4 |
116,169,152 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Mast2
|
UTSW |
4 |
116,173,688 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1529:Mast2
|
UTSW |
4 |
116,287,716 (GRCm39) |
missense |
probably benign |
0.17 |
R1654:Mast2
|
UTSW |
4 |
116,173,747 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1768:Mast2
|
UTSW |
4 |
116,164,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R1807:Mast2
|
UTSW |
4 |
116,167,938 (GRCm39) |
splice site |
probably benign |
|
R1981:Mast2
|
UTSW |
4 |
116,172,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Mast2
|
UTSW |
4 |
116,187,671 (GRCm39) |
splice site |
probably null |
|
R2157:Mast2
|
UTSW |
4 |
116,179,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R3409:Mast2
|
UTSW |
4 |
116,168,107 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3411:Mast2
|
UTSW |
4 |
116,168,107 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3434:Mast2
|
UTSW |
4 |
116,165,292 (GRCm39) |
missense |
probably benign |
0.00 |
R3435:Mast2
|
UTSW |
4 |
116,165,292 (GRCm39) |
missense |
probably benign |
0.00 |
R3953:Mast2
|
UTSW |
4 |
116,170,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R4056:Mast2
|
UTSW |
4 |
116,194,698 (GRCm39) |
splice site |
probably benign |
|
R4153:Mast2
|
UTSW |
4 |
116,173,160 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4648:Mast2
|
UTSW |
4 |
116,172,036 (GRCm39) |
nonsense |
probably null |
|
R4671:Mast2
|
UTSW |
4 |
116,165,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R4911:Mast2
|
UTSW |
4 |
116,210,254 (GRCm39) |
missense |
probably benign |
0.36 |
R4980:Mast2
|
UTSW |
4 |
116,174,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R5322:Mast2
|
UTSW |
4 |
116,190,608 (GRCm39) |
critical splice donor site |
probably null |
|
R5462:Mast2
|
UTSW |
4 |
116,164,655 (GRCm39) |
missense |
probably damaging |
0.99 |
R5586:Mast2
|
UTSW |
4 |
116,292,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R5750:Mast2
|
UTSW |
4 |
116,166,086 (GRCm39) |
intron |
probably benign |
|
R5771:Mast2
|
UTSW |
4 |
116,190,622 (GRCm39) |
missense |
possibly damaging |
0.60 |
R5885:Mast2
|
UTSW |
4 |
116,172,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R6230:Mast2
|
UTSW |
4 |
116,183,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R6347:Mast2
|
UTSW |
4 |
116,174,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R6527:Mast2
|
UTSW |
4 |
116,172,136 (GRCm39) |
missense |
probably damaging |
0.99 |
R6619:Mast2
|
UTSW |
4 |
116,173,694 (GRCm39) |
nonsense |
probably null |
|
R7303:Mast2
|
UTSW |
4 |
116,165,508 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7822:Mast2
|
UTSW |
4 |
116,170,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7843:Mast2
|
UTSW |
4 |
116,210,208 (GRCm39) |
missense |
probably damaging |
0.98 |
R7918:Mast2
|
UTSW |
4 |
116,292,732 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7939:Mast2
|
UTSW |
4 |
116,287,668 (GRCm39) |
missense |
probably benign |
0.09 |
R8052:Mast2
|
UTSW |
4 |
116,170,172 (GRCm39) |
missense |
probably damaging |
0.99 |
R8115:Mast2
|
UTSW |
4 |
116,292,644 (GRCm39) |
missense |
probably benign |
0.01 |
R8312:Mast2
|
UTSW |
4 |
116,287,683 (GRCm39) |
missense |
probably benign |
|
R8398:Mast2
|
UTSW |
4 |
116,165,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R8477:Mast2
|
UTSW |
4 |
116,164,407 (GRCm39) |
missense |
probably benign |
0.43 |
R8759:Mast2
|
UTSW |
4 |
116,292,757 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8832:Mast2
|
UTSW |
4 |
116,168,875 (GRCm39) |
critical splice donor site |
probably null |
|
R9245:Mast2
|
UTSW |
4 |
116,167,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R9261:Mast2
|
UTSW |
4 |
116,165,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R9530:Mast2
|
UTSW |
4 |
116,169,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R9642:Mast2
|
UTSW |
4 |
116,170,966 (GRCm39) |
missense |
probably damaging |
0.99 |
R9709:Mast2
|
UTSW |
4 |
116,173,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R9745:Mast2
|
UTSW |
4 |
116,167,815 (GRCm39) |
missense |
probably benign |
0.00 |
R9746:Mast2
|
UTSW |
4 |
116,168,927 (GRCm39) |
missense |
probably benign |
0.01 |
R9752:Mast2
|
UTSW |
4 |
116,179,508 (GRCm39) |
missense |
probably benign |
0.06 |
X0003:Mast2
|
UTSW |
4 |
116,164,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTAAGCCTCTCCCTGTAG -3'
(R):5'- AAGGTCTGTGACTAATAGCCTCAG -3'
Sequencing Primer
(F):5'- GTAGTATATCCCAGCCTATGCC -3'
(R):5'- TCTGTGACTAATAGCCTCAGCAGAG -3'
|
Posted On |
2019-05-13 |